Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation–related primary immunodeficiency is associated with disseminated mucormycosis
N Kumar, ME Hanks, P Chandrasekaran… - Journal of Allergy and …, 2014 - jacionline.org
To the Editor: Signal transducer and activator of transcription 1 (STAT1) belongs to a family
of transcription factors that mediate growth factor and cytokine signaling. Complete
recessive mutations in STAT1 cause susceptibility to viral, mycobacterial, and bacterial
infections and are fatal early in life. In contrast, heterozygous dominant negative mutations in
STAT1 cause mild disseminated mycobacterial infections. 1 Recently, heterozygous
dominant gain-of-function (GOF) mutations in STAT1 were described as causing impaired …
of transcription factors that mediate growth factor and cytokine signaling. Complete
recessive mutations in STAT1 cause susceptibility to viral, mycobacterial, and bacterial
infections and are fatal early in life. In contrast, heterozygous dominant negative mutations in
STAT1 cause mild disseminated mycobacterial infections. 1 Recently, heterozygous
dominant gain-of-function (GOF) mutations in STAT1 were described as causing impaired …
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